All individuals with variants in gene ACVR1

159 entries on 2 pages. Showing entries 1 - 100.
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00204342 - - - - - - - - - - - FOP, Healthy/Control - 1 16 LOVD
00204346 Fam1;FamA PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 4 affected (2F, 2M) F - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes 1 4 LOVD
00204349 patient PubMed: Ratbi 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Morocco - - - - - FOP see paper; ... 1 1 LOVD
00204350 FamPatIII2 PubMed: Joziasse 2011 3-generation family, 1 affected M - Netherlands - - - - - ASD Down syndrome, congenital heart defect; unaffected carrier father 1 5 LOVD
00204351 - - - F - - - - - - - AVSD European ancestry; inherited from the healthy father 1 1 LOVD
00204352 - - - F - El Salvador - - - - - FOP FOP-plus or FOP variants (variation fron the classic FOP features as defined in PMID19085907 Kaplan FS, et al., 2009); reduction malformation of the digits; mild cognitive impairment 1 1 LOVD
00204356 Pat17 PubMed: Carvalho 2010 - F - Brazil - - - - - FOP 1y-onset heterotopic ossification, progressive heterotopic ossification in usual anatomic pattern; cervical vertebral abnormalities; short broad femoral necks; thumb malformations; hearing impairment; reduction terminal deficits of other digits; absent nail in digits with reduction deficits; postaxial missing digit of both hands; mild cognitive impairment; primary amenorrhea; corpus callosum abnormality 1 1 LOVD
00204357 patient PubMed: Smith 2009 - M - Netherlands - - - - - AVSD European ancestry; inherited from the father with no AVS but presenting cardiac murmur; no evidence of mosaicism 1 1 LOVD
00331316 13DG2212 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes 1 1 LOVD
00395244 patient PubMed: Hasegawa 2022 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - FOP see paper; ..., syndactyly hands and feet, nail agenesis, mandibular hypoplasia, heterotopic ossification occurring from infancy, congenital cardiac malformation 1 1 Kosei Hasegawa
00395245 Fam2;FamB PubMed: Feldman 2000, PubMed: Shore 2006 3-generation family, 5 affected (4F, M) - - United Kingdom (Great Britain) - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes 1 5 Johan den Dunnen
00395246 Fam4;FamC PubMed: Feldman 2000, PubMed: Shore 2006 2-generation family, affected father/daughter - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes 1 2 Johan den Dunnen
00395247 FamD PubMed: Shore 2006 2-generation family, affected father/2 daughters - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes 1 3 Johan den Dunnen
00395248 FamE PubMed: Shore 2006 2-generation family, affected father/son/daughters - - United States - - - - - FOP postnatal progressive heterotopic ossification muscle, tendon, ligament, and fascia, congenital malformation great toes 1 3 Johan den Dunnen
00395249 FamF PubMed: Shore 2006 family - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395250 FamG PubMed: Shore 2006 family - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395251 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395252 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395253 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395254 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395255 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395256 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395257 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395258 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395259 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395260 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395261 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395262 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395263 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395264 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395265 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395266 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395267 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395268 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395269 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395270 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395271 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395272 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395273 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395274 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395275 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395276 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395277 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395278 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395279 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395280 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395281 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395282 patient PubMed: Shore 2006, PubMed: Kaplan 2019 patient - - United States - - - - - FOP - 1 1 Johan den Dunnen
00395283 patient PubMed: Lin 2006 2-generation family, 1 affected, unaffected non-carrier parent F - Taiwan - - - - - FOP see paper; ... 1 1 Johan den Dunnen
00395284 FOP1 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - FOP see paper; ..., abnormal great toe, short thumb 1 1 Johan den Dunnen
00395285 FOP2 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent M - Japan - - - - - FOP see paper; ..., scalp baldness, abnormal great toe 1 1 Johan den Dunnen
00395286 FOP3 PubMed: Nakajima 2007 2-generation family, 1 affected, unaffected non-carrier parent F - Japan - - - - - FOP see paper; ..., short broad femoral neck, abnormal great toe, short thumb 1 1 Johan den Dunnen
00395287 FOP1 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP great toe malformation 1 1 Johan den Dunnen
00395288 FOP2 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 15m-onset ossification, great toe malformation, hydrocephalus secondary to posterior bulbar expansive lesion of unknown origin (surgical correction) 1 1 Johan den Dunnen
00395289 FOP3 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 4y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395290 FOP4 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 20m-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395291 FOP5 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 8y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395292 FOP6 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 6y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395293 FOP7 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 11y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395294 FOP8 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 11y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395295 FOP9 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 3y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395296 FOP10 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 14y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395297 FOP11 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 6m-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395298 FOP12 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 4y-onset ossification, no great toe malformation 2 1 Johan den Dunnen
00395299 FOP13 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 5y-onset ossification, great toe malformation, episodic seizures 1 1 Johan den Dunnen
00395300 FOP14 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 4y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395301 FOP15 PubMed: Bocciardi 2009 - M - Italy - - - - - FOP 6y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395302 FOP16 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP great toe malformation 1 1 Johan den Dunnen
00395303 FOP17 PubMed: Bocciardi 2009 - F - Italy - - - - - FOP 14y-onset ossification, great toe malformation 1 1 Johan den Dunnen
00395304 Pat1 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 3y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; aplastic anemia; 1 1 Johan den Dunnen
00395305 Pat2 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 14y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; polyostotic fibrous dysplasia; 1 1 Johan den Dunnen
00395306 Pat3 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 4m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); craniopharygioma; 1 1 Johan den Dunnen
00395307 Pat4 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; thumb malformations (short 1st metacarpal, +/- monophalangism); sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; childhood glaucoma; 1 1 Johan den Dunnen
00395308 Pat5 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 9y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; cataracts; retinal detachment; childhood glaucoma; diffuse cerebral dysfunction, seizures; 1 1 Johan den Dunnen
00395309 Pat6 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 1y6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation; 1 1 Johan den Dunnen
00395310 Pat7 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 6m-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe growth retardation; 1 1 Johan den Dunnen
00395311 Pat8 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 26y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); distal femoral osteochondroma; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); normal right great toe, minor changes in 1st left metatarsal; intra-articular synovial osteochondromatosis of hips, DJD hips; anatomic abnormalities of cerebellum; 1 1 Johan den Dunnen
00395312 Fam9PatII2 PubMed: Kaplan 2019 2-generation family, 3 affected, mother/2 daughters F - - - - - - - FOP see paper; ..., 22y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, no ntra-articular synovial osteochondromatosis hip, radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; 1 3 Johan den Dunnen
00395313 Fam9PatIII1 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., no heterotopic ossification, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, minor congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; 1 1 Johan den Dunnen
00395314 Fam9PatIII2 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 13y-onset heterotopic ossification, mild heterotopic ossification, exacerbation following trauma, intra-articular synovial osteochondromatosis hip, no radiographic anomalies cervical spine; progressive heterotopic ossification in characteristic anatomic patterns, no congenital malformation great toe, ; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); mother mild orthotopic changes in C-spine, daughters do not; intra-articular synovial osteochondromatosis of hips, DJD hips; 1 1 Johan den Dunnen
00395315 Pat10 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 21y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; short broad femoral necks; characteristic short monophalangic great toe, missing middle phalanges of 4th and 5th toes bilaterally; intra-articular synovial osteochondromatosis of hips, DJD hips; cerebral cavernous malformations 1 1 Johan den Dunnen
00395316 Pat11 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; anatomic abnormalities of cerebellum; 1 1 Johan den Dunnen
00395317 Pat12 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 8y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; 1 1 Johan den Dunnen
00395318 Pat13 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; 1 1 Johan den Dunnen
00395319 Pat14 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); mild cognitive impairment; 1 1 Johan den Dunnen
00395320 Pat15 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 2y-onset heterotopic ossification; characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); persistence of primary teeth in adulthood; primary amenorrhea; 1 1 Johan den Dunnen
00395321 Pat16 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., 4m-onset heterotopic ossification; characteristic malformations right great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism) ; progressive heterotopic ossification in characteristic anatomic patterns; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of left digits ; absent finger/toe nails in left digits with severe reduction deficits; hypospadias; 1 1 Johan den Dunnen
00395322 Pat17 PubMed: Kaplan 2019 - M - - - - - - - FOP see paper; ..., heterotopic ossification; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; mild cognitive impairment; 1 1 Johan den Dunnen
00395323 Pat18 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 15y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; conductive hearing impairment; cervical spine malformations (intra-articular ankylosis facet joints, early degenerative changes cervical spine); proximal medial tibial osteochondromas; short broad femoral necks; thumb malformations (short 1st metacarpal, +/- monophalangism); severe variable reduction deficits of digits; absent finger/toe nails in digits with severe reduction deficits; sparse, thin scalp hair (more prominent in 2nd decade); primary amenorrhea; 1 1 Johan den Dunnen
00395324 Pat19 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 14y-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; normal or minimal changes in great toes; 1 1 Johan den Dunnen
00395325 Pat20 PubMed: Kaplan 2019 - F - - - - - - - FOP see paper; ..., 11y6m-onset heterotopic ossification; progressive heterotopic ossification in characteristic anatomic patterns; proximal medial tibial osteochondromas; normal or minimal changes in great toes; 1 1 Johan den Dunnen
00395326 patients PubMed: Kaplan 2019 64 classic FOP patients F;M - - - - - - - FOP see paper; ..., 1-10y-onset heterotopic ossification; 1.00 characteristic malformations great toe (hallux valgus, malformed 1st metatarsal, and/or monophalangism); 1.00 progressive heterotopic ossification in characteristic anatomic patterns; 0.50 conductive hearing impairment; 0.80 cervical spine malformations i(ntra-articular ankylosis facet joints, early degenerative changes cervical spine); 0.90 proximal medial tibial osteochondromas; 0.70 short broad femoral necks; 0.50 thumb malformations (short 1st metacarpal, +/- monophalangism) 1 64 Johan den Dunnen
00395327 patient PubMed: Furuya 2008 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - FOP see paper; ..., normal birth, 10y-difficulty moving shoulder due to contractures both shoulder joints; joint contractures progressed slowly in extremities; 36y-unable to walk; 55y-bedridden, rigid spine, baldness, sensory hearing-loss, abnormal ossification, no respiratory failure; severe hypodactyly, short thumbs both hands, severe defect both great toes; no neurological anomalies, joint contractures, abnormal ossification; X-ray/3D-tomography extensive heterotopic bone formation, rigid spine, very short first metacarpal bones, toe malformations, defect of ossa digitorum both great toes 1 1 Johan den Dunnen
00395328 Pat1 PubMed: Petrie 2009 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ..., painful bony lump over right scapula after fall, one short great toe; developed multiple tender bony swellings; fixed flexion deformities both elbows, lumbar spinal movements restricted; frequent flares of condition with increased inflammatory lesions over shoulder joints, neck, and jaw; fusion neck within 6 months of clinical presentation 1 1 Johan den Dunnen
00395329 Pat2 PubMed: Petrie 2009 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ..., birth severe reduction deformities all digits; 6y-lumps, usually painful, on occiput, stiff spine, stiff shoulders; 14y-both elbows and right hip ectopic ossification; 18y-left hip ectopic ossification; 20y-ossification jaw after dental extraction; 26y-complete spinal fixation, shoulders fixed in adduction, elbows fixed in flexion, hip movement restricted and fixed in slight flexion, jaw gape 0.3cm; mild cognitive impairment, diffuse scalp, 14y-onset hair thinning 1 1 Johan den Dunnen
00395330 patient PubMed: Barnett 2011 - F - Australia - - - - - FOP see paper; ..., 21y-stiff back, X-ray lumbar spine normal 1 1 Johan den Dunnen
00395331 patient PubMed: Gregson 2011 - F - United Kingdom (Great Britain) - - - - - FOP see paper; ... 1 1 Johan den Dunnen
00395332 patient PubMed: Nakahara 2014 - M - Japan - - - - - FOP see paper; ..., heterotopic ossification, no malformation great toes, normal development from birth; 17y-heterotopic ossification lumbar area; delayed onset, slower and mild clinical course, little finger camptodactyly 1 1 Johan den Dunnen
00395333 Pat1 PubMed: Sun 2009 - M - China - - - - - FOP see paper; ... 1 1 Johan den Dunnen
00395334 Pat2 PubMed: Sun 2009 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - FOP see paper; ... 1 1 Johan den Dunnen
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